特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001943.5(DSG2):c.523+2T>C	DSG2	Pathogenic/Likely pathogenic	18	29101208	29101208	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022165
single nucleotide variant	NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)	DSG2	Likely pathogenic	18	29104778	29104778	C	A	criteria provided, single submitter	ClinGen:CA022361
single nucleotide variant	NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)	RAF1	Pathogenic/Likely pathogenic	3	12645703	12645703	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261620
single nucleotide variant	NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)	RAF1	Pathogenic/Likely pathogenic	3	12645701	12645701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261623,UniProtKB:P04049#VAR_037807
single nucleotide variant	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1	Pathogenic	3	12645693	12645693	G	T	reviewed by expert panel	ClinGen:CA134750
single nucleotide variant	NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)	RAF1	Pathogenic	3	12645683	12645683	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261628
single nucleotide variant	NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)	BAG3	Pathogenic	10	121436429	121436429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA135016,UniProtKB:O95817#VAR_066785
single nucleotide variant	NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)	ACTC1	Likely pathogenic	15	35084672	35084672	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019824
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>A	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA138728
Deletion	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)	TTN	Likely pathogenic	2	179485178	179485179	CAT	C	criteria provided, single submitter	ClinGen:CA261859

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